Mondher Chouchane

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Julien Thévenon, Yannis Duffourd, Alice Masurel‐Paulet et al. · Clinical Genetics · 2016 · 269 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon, Mathieu Milh, François Feillet et al. · The American Journal of Human Genetics · 2014 · 136 citations · Full text

Life Sciences, Genetics, Neuroscience +13

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane et al. · Epilepsia · 2011 · 131 citations · Full text

Medicine, Genetics, Neurology +17

Nusinersen in patients older than 7 months with spinal muscular atrophy type 1

Karolina Aragon‐Gawinska, Andreea Seferian, Aurore Daron et al. · Neurology · 2018 · 121 citations

Medicine, Pediatrics, Pharmacotherapy +15